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因腹膜后滤泡树突细胞肉瘤急性加重导致进行性腹痛:一例采用靶向基因组测序分析的病例报告。

Progressive abdominal pain with acute exacerbation due to retroperitoneal follicular dendritic cell sarcoma: a case report with targeted genomic sequencing analysis.

机构信息

Department of Gastrointestinal Surgery, Renji Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Department of Pathology, Renji Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

出版信息

Acta Chir Belg. 2023 Dec;123(6):707-711. doi: 10.1080/00015458.2022.2145731. Epub 2022 Nov 18.

DOI:10.1080/00015458.2022.2145731
PMID:36398705
Abstract

BACKGROUND

Follicular dendritic cell sarcoma (FDCS) is a rare malignancy that arises from follicular dendritic cells and typically presents as a slow-growing painless mass without specific symptoms. Here we report an unusual case of a 55-year-old female with retroperitoneal FDCS who presented with progressive abdominal pain onset and acute exacerbation.

METHODS

On CTA, a middle-upper abdominal mass (58*40 mm) was shown with multiple enlarged lymph nodes. After en-bloc resection of the tumor, the patient recovered completely from her symptoms and was discharged without complication. One month later, the patient returned for follow-up and the relevant tests were completed.

RESULTS

In this case, CA724 elevated significantly and seemed to be associated with tumor progression. The results of positron emission tomography/computed tomography (PET/CT) and radiological examinations, including magnetic resonance imaging (MRI) and computed tomography angiography (CTA), were discussed to improve our understanding of diagnostic tools on FDCS. Targeted genomic sequencing analysis revealed three novel gene mutations, (nonsense mutation), (SNV), and (InDel).

CONCLUSION

We reported an unusual case of retroperitoneal FDCS with acute exacerbated abdominal pain. The interpretations of CA724, PET/CT, as well as imaging results deserve further investigation in FDCS. Genomic sequencing revealed three novel gene mutations in FDCS, including (nonsense mutation), (SNV), and (InDel).

摘要

背景

滤泡树突状细胞肉瘤(FDCS)是一种罕见的恶性肿瘤,起源于滤泡树突状细胞,通常表现为生长缓慢、无痛的肿块,无特异性症状。在此,我们报告一例 55 岁女性腹膜后 FDCS 病例,其表现为进行性腹痛发作和急性加重。

方法

CTA 显示中上腹部肿块(58*40mm),伴多个增大的淋巴结。肿瘤整块切除后,患者症状完全缓解,无并发症出院。一个月后,患者返回随访,完成相关检查。

结果

本例中,CA724 显著升高,似乎与肿瘤进展有关。讨论了正电子发射断层扫描/计算机断层扫描(PET/CT)和影像学检查(包括磁共振成像[MRI]和计算机断层血管造影[CTA])的结果,以提高我们对 FDCS 诊断工具的认识。靶向基因组测序分析显示 FDCS 存在三个新的基因突变,分别为 (无义突变)、 (SNV)和 (InDel)。

结论

我们报告了一例罕见的腹膜后 FDCS 伴急性腹痛加重的病例。对 CA724、PET/CT 以及影像学结果的解读在 FDCS 中值得进一步研究。基因组测序在 FDCS 中发现了三个新的基因突变,包括 (无义突变)、 (SNV)和 (InDel)。

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